Background information
SCA11 is a 1,244 amino acid protein that belongs to the protein kinase superfamily and the CK1 Ser/Thr protein kinase family. The SCA11 gene, comprising of 16 exons, produces a 5.6-kb transcript in which the longest open reading frame is 3,732 nucleotides. Defects in the SCA11 protein are the cause of the disorder spinocerebellar ataxia type 11 (SCA11). Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. The SCA11 disorder is an autosomal dominant cerebellar ataxia (ADCA). It is a relatively benign, late-onset, slowly progressive neurologic disorder. The SCA11 protein has also been implicated in Alzheimer disease and in tangle formation. Existing as three alternatively spliced isoforms, the SCA11 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken and zebrafish, and maps to human chromosome 15q15.2.
